Canonical Allele Identifier: CA46702017

Gene: MSH2

Linked Data

• dbSNP Id: rs959809274
• gnomAD v2: 2-47703410-G-A
• gnomAD v3: 2-47476271-G-A
• gnomAD v4: 2-47476271-G-A
• MyVariant Identifiers: chr2:g.47703410G>A (hg19) ; chr2:g.47476271G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476271G>A , CM000664.2:g.47476271G>A	GRCh38
NC_000002.11:g.47703410G>A , CM000664.1:g.47703410G>A	GRCh37
NC_000002.10:g.47556914G>A	NCBI36
NG_007110.2:g.78148G>A , LRG_218:g.78148G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2006-96G>A	ENSP00000495641.2:n.2006-96G>A
ENST00000233146.7:c.2006-96G>A MANE Select	ENSP00000233146.2:n.2006-96G>A
ENST00000543555.6:c.1808-96G>A	ENSP00000442697.1:n.1808-96G>A
ENST00000644092.1:c.*306-96G>A	ENSP00000496351.1:n.*306-96G>A
ENST00000645339.1:c.2006-96G>A	ENSP00000496441.1:n.2006-96G>A
ENST00000645506.1:c.2006-96G>A	ENSP00000495455.1:n.2006-96G>A
ENST00000646415.1:c.2006-96G>A	ENSP00000495543.1:n.2006-96G>A
ENST00000233146.6:c.2006-96G>A	ENSP00000233146.2:n.2006-96G>A
ENST00000406134.5:c.2006-96G>A	ENSP00000384199.1:n.2006-96G>A
ENST00000543555.5:c.1808-96G>A	ENSP00000442697.1:n.1808-96G>A
ENST00000610696.4:c.*402-96G>A	ENSP00000483159.1:n.*402-96G>A
ENST00000613514.4:c.*546-96G>A	ENSP00000484137.1:n.*546-96G>A
ENST00000617333.3:c.*772-96G>A	ENSP00000482468.1:n.*772-96G>A
ENST00000617938.4:c.*978-96G>A	ENSP00000481158.1:n.*978-96G>A
ENST00000621359.2:c.2006-96G>A	ENSP00000481416.1:n.2006-96G>A
NM_000251.2:c.2006-96G>A , LRG_218t1:c.2006-96G>A	NP_000242.1:n.2006-96G>A
NM_001258281.1:c.1808-96G>A	NP_001245210.1:n.1808-96G>A
XM_005264332.2:c.2006-96G>A	XP_005264389.2:n.2006-96G>A
XM_011532867.1:c.2006-96G>A	XP_011531169.1:n.2006-96G>A
XR_939685.1:n.2078-96G>A
XM_005264332.4:c.2006-96G>A	XP_005264389.2:n.2006-96G>A
XM_011532867.2:c.2006-96G>A	XP_011531169.1:n.2006-96G>A
XR_001738747.2:n.2068-96G>A
XR_939685.2:n.2068-96G>A
NM_000251.3:c.2006-96G>A MANE Select	NP_000242.1:n.2006-96G>A